Epilepsy
Epilepsy is a term used to describe a group of related neurological disorders, each with a different underlying cause, that exhibit a similar set of symptoms. Historically, these diseases have each been treated as the same disorder due to the similar symptomology, generally frequent seizures which can either be the result of an environmental cause (such as flashing lights) or can come about totally at random. The seizures can range widely from absence seizures to serious grand mal seizures. Modern neurology has noted that the brain of an epileptic patient during a seizure seems to be in a state of overwhelming activity, which every part of the brain being active. Typically, the part of the brain focusing on a task is the only one that shows activity in either an EEG or a PET scan. Epilepsy is difficult to treat, but most patients can live fairly normal lives without suffering from frequent seizures. Generally, patients are given anti-convulsive medication to control the seizures. In some cases, the underlying cause can be treated, but this often requires brain surgery. In severe cases, the two halves of the cerebellum are separated to prevent overactive brain activity in one part of the brain from affecting the other half. However, this procedure often has serious cognitive side effects. Epilepsy is not unknown in children, and indeed many children who develop the disorder grow out of it once they grow older. However, doctors must be trained not to overdiagnose epilepsy. A common behavioral trait, gratification disorder, which is merely a misnomer for precocious masturbation, leads parents to believe their children are suffering seizure. As such it is usually important for a physician to attempt to induce a seizure to confirm a diagnosis of epilepsy before prescribing medication. Epilepsy Syndromes There are many different epilepsy syndromes, each presenting with its own unique combination of seizure type, typical age of onset, EEG findings, treatment, and prognosis. The most widespread classification of the epilepsies 8 divides epilepsy syndromes by location or distribution of seizures (as revealed by the appearance of the seizures and by EEG) and by cause. Syndromes are divided into localization-related epilepsies, generalized epilepsies, or epilepsies of unknown localization. Localization-related epilepsies, sometimes termed partial or focal epilepsies, arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. Generalized epilepsies, in contrast, arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. Epilepsies of unknown localization remain unclear whether they arise from a portion of the brain or from more widespread circuits. Epilepsy syndromes are further divided by presumptive cause: idiopathic, symptomatic, and cryptogenic. Idiopathic epilepsies are generally thought to arise from genetic abnormalities that lead to alteration of basic neuronal regulation. Symptomatic epilepsies arise from the effects of an epileptic lesion, whether that lesion is focal, such as a tumor, or a defect in metabolism causing widespread injury to the brain. Cryptogenic epilepsies involve a presumptive lesion that is otherwise difficult or impossible to uncover during evaluation. Some epileptic syndromes are difficult to fit within this classification scheme and fall in the unknown localization/etiology category. People who only have had a single seizure, or those with seizures that occur only after specific precipitants ("provoked seizures"), have "epilepsies" that fall into this category. Febrile convulsions are an example of seizures bound to a particular precipitant. Landau-Kleffner syndrome is another epilepsy which, because of its variety of EEG distributions, falls uneasily in clear categories. More confusingly, certain syndromes like West syndrome featuring seizures such as Infantile spasms can be classified as idiopathic, syndromic, or cryptogenic depending on cause and can arise from both focal or generalized epileptic lesions. Below are some common seizure syndromes: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) This is an idiopathic localization-related epilepsy that is an inheirited epileptic disorder that causes seizures during sleep. Onset is usually in childhood. These seizures arise from the frontal lobes and consist of complex motor movements, such as hand clenching, arm raising/lowering, and knee bending. Vocalizations such as shouting, moaning, or crying are also common. ADNFLE is often misdiagnosed as nightmares. ADNFLE has a genetic basis19. These genes encode various nicotinic acetylcholine receptors. Benign Centrotemporal Lobe Epilepsy This is an epilepsy of childhood or Benign rolandic epilepsy is an idiopathic localization-related epilepsy that occurs in children between the ages of 3 and 13 years with peak onset in prepubertal late childhood. Apart from their seizure disorder, these patients are otherwise normal. This syndrome features simple partial seizures that involve facial muscles and frequently cause drooling. Although most episodes are brief, seizures sometimes spread and generalize. Seizures are typically nocturnal and confined to sleep. The EEG may demonstrate spike discharges that occur over the centrotemporal scalp over the central sulcus of the brain (the Rolandic sulcus) that are predisposed to occur during drowsiness or light sleep. Seizures cease near puberty. 20 Seizures may require anticonvulsant treatment, but sometimes are infrequent enough to allow physicians to defer treatment. Benign Occipital Epilepsy of Childhood (BOEC) This is an idiopathic localization-related epilepsy and consists of an evolving group of syndromes. Most authorities include two subtypes, an early subtype with onset between 3-5 years and an late onset between 7-10 years. Seizures in BOEC usually feature visual symptoms such as scotoma or fortifications (brightly colored spots or lines) or amaurosis (blindness or impairment of vision). Convulsions involving one half the body, hemiconvulsions, or forced eye deviation or head turning are common. Younger patients typically experience symptoms similar to migraine with nausea and headache, and older patients typically complain of more visual symptoms. The EEG in BOEC shows spikes recorded from the occipital (back of head) regions. Lately, a group of epilepsies termed Panayiotopoulos syndrome21 that share some clinical features of BOEC but have a wider variety of EEG findings are classified by some as BOEC. Catamenial Epilepsy (CE) This is when seizures typically occur around a woman's menstrual cycle. Kindheit Absencen-Epilepsie (CEA) Dies ist eine idiopathische Generalisierte Epilepsie, die Kinder zwischen 4 und 12 Jahren alt, betroffen, obwohl Gipfel Beginn ca. 5-6 Jahre alt ist. Diese Patienten haben wiederkehrende fehlen Sicherstellungen, kurze Episoden nicht mehr blicken, manchmal mit kleineren motor Features wie Augen blinken oder subtile kauen. Das EEG finden in CAE ist generalisierte Spike und Welle Einleitungen von 3 Hz. Einige gehen auf entwickeln generalisierte tonische-klonische Krämpfen. Diese Bedingung trägt eine gute Prognose, denn Kinder nicht in der Regel, kognitive Abnahme oder neurologische Defizite zeigen und die Anfälle in der Mehrheit nicht spontan mit Onging Reifung mehr. Generalisierte Spike 3 Hz und Welle mündet im EEG Dravet's syndrome Severe myoclonic epilepsy of infancy (SMEI) This generalized epilepsy syndrome is distinguished from benign myoclonic epilepsy by its severity and must be differentiated from the Lennox-Gastaut syndrome and Doose’s myoclonic-astatic epilepsy. Onset is in the first year of life and symptoms peak at about 5 months of age with febrile hemiclonic or generalized status epilepticus. Boys are twice as often affected as girls. Prognosis is poor. Most cases are sporadic. Family history of epilepsy and febrile convulsions is present in around 25 percent of the cases.22 Frontal Lobe Epilepsy Usually a symptomatic or cryptogenic localization-related epilepsy, arises from lesions causing seizures that occur in the frontal lobes of the brain. These epilepsies can be difficult to diagnose because the symptoms of seizures can easily be confused with nonepileptic spells and, because of limitations of the EEG, be difficult to "see" with standard scalp EEG. Juvenile Absence Epilepsy This is an idiopathic generalized epilepsy with later onset that CAE, typically in prepubertal adolescence, with the most frequent seizure type being absence seizures. Generalized tonic-clonic seizures can occur. 3 Hz spike-wave or multiple spike discharges can be seen on EEG. Prognosis is mixed, with some patients going on to a syndrome that is poorly distinguishable from JME. Juvenile Myoclonic Epilepsy (JME) This is an idiopathic generalized epilepsy that develops in patients aged 8 to 20 years and continues for the rest of their lives. Patients have normal cognition and are otherwise neurologically intact. The most common seizures are myoclonic jerks, although generalized tonic-clonic seizures and absence seizures may occur as well. Myoclonic jerks usually cluster in the early morning after awakening. The EEG reveals generalized 4-6 Hz spike wave discharges or multiple spike discharges. Interestingly, these patients are often first diagnosed when they have their first generalized tonic-clonic seizure later in life when they experience sleep deprivation (e.g., freshman year in college after staying up late to study for exams). Alcohol withdrawal can also be a major contributing factor in breakthrough seizures as well. The risk of the tendency to have seizures is lifelong; however, the majority have well-controlled seizures with anticonvulsant medication (Depakote, Keppra) and avoidance of seizure precipitants. Tegretol is a common anticonvulsant known to aggravate this type of epilepsy. Lennox-Gastaut Syndrome (LGS) This is a generalized epilepsy that consists of a triad of developmental delay or childhood dementia, mixed generalized seizures, and EEG demonstrating a pattern of approximately 2 Hz "slow" spike-wave. Onset occurs between 2-18 years. As in West syndrome, LGS result from idiopathic, symptomatic, or cryptogenic causes, and many patients first have West syndrome. Authorities emphasize different seizure types as important in LGS, but most have astatic seizures (drop attacks), tonic seizures, tonic-clonic seizures, atypical absence seizures, and sometimes, complex partial seizures. Anticonvulsants are usually only partially successful in treatment. Primary Reading Epilepsy This is a reflex epilepsy classified as an idiopathic localization-related epilepsy. Reading in susceptible individuals triggers characteristic seizures23. Progressive Myoclonic Epilepsies Progressive Myoclonic Epilepsies define a group of symptomatic generalized epilepsies characterized by progressive dementia and myoclonic seizures. Tonic-clonic seizures may occur as well. Diseases usually classified in this group are Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF syndrome), Lafora disease, neuronal ceroid lipofucinosis, and sialidosis. Rasmussen's Encephalitis This is a symptomatic localization-related epilepsy that is a progressive, inflammatory lesion affecting children with onset before the age of 10. Seizures start as separate simple partial or complex partial seizures and may progress to epilepsia partialis continuata (simple partial status epilepticus). Neuroimaging shows inflammatory encephalitis on one side of the brain that may spread if not treated. Dementia and hemiparesis are other problems. The cause is hypothesized to involve an immulogical attack against glutamate receptors, a common neurotransmitter in the brain. 24 Symptomatic Localization-Related Epilepsies Symptomatic localization-related epilepsies are divided by the location in the brain of the epileptic lesion, since the symptoms of the seizures are more closely tied to the brain location rather than the cause of the lesion. Tumors, arterio-venous malformations, cavernous malformations, trauma, and cerebral infarcts can all be causes of epileptic foci in different brain regions. Temporal Lobe Epilepsy (TLE) This is a symptomatic localization-related epilepsy, is the most common epilepsy of adults who experience seizures poorly controlled with anticonvulsant medications. In most cases, the epileptogenic region is found in the midline (mesial) temporal structures (e.g., the hippocampus, amygdala, and parahippocampal gyrus). Seizures begin in late childhood and adolescence. Most of these patients have complex partial seizures sometimes preceded by an aura, and some TLE patients also suffer from secondary generalized tonic-clonic seizures. If the patient does not respond sufficiently to medical treatment, epilepsy surgery may be considered. West Syndrome This is a triad of developmental delay, seizures termed infantile spasms, and EEG demonstrating a pattern termed hypsarrhythmia. Onset occurs between 3 months and 2 years, with peak onset between 8-9 months. West syndrome may arise from idiopathic, symptomatic, or cryptogenic causes. The most common cause is tuberous sclerosis. The prognosis varies with the underlying cause. In general most surviving patients remain with significant cognitive impairment and continuing seizures and may evolve to another eponymic syndrome, Lennox-Gastaut syndrome. Links Epilepsy at Wikipedia Epilepsy at Mayo Clinic Category:Diseases Category:Neurology